半巨脑畸形伴成人癫痫发作,智力功能正常:罕见病例报告

Amit Kumar, Rajesh Chetiwal, Shweta Tanwar
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引用次数: 0

摘要

半巨脑畸形(HME)是一种罕见的先天性脑畸形,其特征是大脑半球异常增大。它可以表现为孤立的散发形式或与其他神经发育综合征相关。典型的临床表现出现在婴儿期或幼儿期,包括智力障碍、发育迟缓、顽固性癫痫和运动异常。我们在这里报告一个不典型的HME与正常的智力功能和成人发病的非难治性癫痫的情况下,显示了广泛的变化在临床表现的疾病。
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Hemimegalencephaly with adult-onset seizures and normal intellectual function: A rare case report
Hemimegalencephaly (HME) is one of the rarest congenital malformations of the brain characterized by abnormal enlargement of a cerebral hemisphere. It can present as an isolated sporadic form or associated with other neurodevelopmental syndromes. The classical clinical manifestation develops in infancy or early childhood and includes intellectual impairment, developmental delay, intractable epilepsy, and motor abnormalities. We report here an atypical case of HME with normal intellectual functions and adult-onset nonrefractory epilepsy demonstrating the wide variation in clinical expressivity of the disease.
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